SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies

Abstract In developed countries, Newborn Screening (NBS) programs aim to detect treatable yet clinically silent disorders. The selection of disorders to be included in NBS considers severity, treatment availability, prevalence, and analysis cost. However, numerous genetic disorders remain excluded f...

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Bibliographic Details
Main Authors: Anne Kristine Schack, M. Carmen Garrido-Navas, David Galevski, Gjorgji Madjarov, Lukasz Krych
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Human Genomics
Online Access:https://doi.org/10.1186/s40246-024-00690-w
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